De novo RUNX1-driven acute myeloid leukemia requiring integrative genetics

Copy number variants are common in myeloid malignancies and may hold diagnostic, prognostic or therapeutic significance. We present a case of acute myeloid leukemia driven by a RUNX1 deletion with no prior history of a myeloid neoplasm. Discovery of the underlying genetic lesion required multiple testing platforms highlighting the strengths and weaknesses of each test type. Additionally, this case adds to the literature of RUNX1 deletion AML, the adverse prognosis that these cases share and the potential consideration of RUNX1 alterations (both deletions and mutations) as a specific AML entity.